DNA Profile

DNA Profile
Analysis of human DNA reveals a distinctive genetic “fingerprint” [Image: Micah’s DNA under CC BY-SA 2.0 licence]
Spitting into a plastic tube normally doesn’t cost $199, but the personal genomics company 23andMe has recently won FDA approval to turn that saliva into a DNA fingerprint.  By identifying common variants in our genetic code, 23andMe’s DNA-testing service originally supplied personalized insights into disease predisposition, drug sensitivity, and other health-related traits.  In 2013, however, the FDA demanded that 23andMe shutter the health-related aspect of its business, citing concerns that patients would misuse the data without a physician’s oversight.  This service has now returned to the marketplace after a two-year hiatus, albeit with a significantly reduced menu of genetic data.

Despite the cutbacks, many of the most important tests remain.  To allay fears that genetic information would promote health anxiety, the current suite of tests eschews probabilistic results in favor of those that are unambiguous and medically actionable.  For example, they can identify “carriers” of genetic diseases like cystic fibrosis who harbor single variants in specific regions of DNA.  Carriers are often asymptomatic, but careful planning is required to prevent future generations from contracting the disease.

The return of 23andMe is an exciting milestone for direct-to-consumer personal genome testing.  Although it’s inevitable that some people will interpret their DNA fingerprint in an unreasonable way, these data will only become more valuable as we continue to study the relationship between genes and human health.  Our genes are not our destiny, but we can learn a lot about ourselves by exploring the microscopic instruction manuals that our parents gave to us.

Acknowledgments: Many thanks to Dr. John Doench, Associate Director of the Genetic Perturbation Platform at the Broad Institute, for providing his expertise and commentary on the topic.

Managing Correspondent: Christopher Gerry

Media Coverage: Out of regulatory limbo, 23andMe resumes some health tests and hopes to offer more – Nature News

Related SITN Article: Is Disease in My Future?  How Your Genome Might One Day Answer That Question

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